• Gene id: 55658

Gene Summary

• Gene Symbol: RNF126   Gene   UCSC   Ensembl
• Gene name: ring finger protein 126
• Alternate names: E3 ubiquitin-protein ligase RNF126,
• Gene location: 19p13.3 (663213: 647525)     Exons: 10     NC_000019.10
• Gene summary(Entrez): The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. [provided by RefSeq, Jul 2008]
• OMIM: 615177

Protein Summary

• Protein general information: Q9BV68  
  • Name: E3 ubiquitin protein ligase RNF126 (EC 2.3.2.27) (RING finger protein 126)
  • Length: 311  
  • Mass: 33861
  • Tissue specificity: Highly expressed in liver and testis. {ECO
• Sequence:

  MAEASPHPGRYFCHCCSVEIVPRLPDYICPRCESGFIEELPEETRSTENGSAPSTAPTDQSRPPLEHVDQHLFTL
  PQGYGQFAFGIFDDSFEIPTFPPGAQADDGRDPESRRERDHPSRHRYGARQPRARLTTRRATGRHEGVPTLEGII
  QQLVNGIITPATIPSLGPWGVLHSNPMDYAWGANGLDAIITQLLNQFENTGPPPADKEKIQALPTVPVTEEHVGS
  GLECPVCKDDYALGERVRQLPCNHLFHDGCIVPWLEQHDSCPVCRKSLTGQNTATNPPGLTGVSFSSSSSSSSSS
  SPSNENATSNS

• Structural information:
  • Interpro: IPR039572  IPR039525  IPR039571  IPR001841  IPR013083  
  • Prosite: PS50089
  • CDD: cd16801
  • PDB: 2N9O 2N9P
  • PDBsum: 2N9O 2N9P
  • STRING: ENSP00000292363
• Other Databases: GeneCards:  RNF126  Malacards:  RNF126

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016567	protein ubiquitination	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0006513	protein monoubiquitination	IDA	biological process
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0070936	protein K48-linked ubiquitination	ISS	biological process
GO:0070534	protein K63-linked ubiquitination	ISS	biological process
GO:0071629	cytoplasm protein quality control by the ubiquitin-proteasome system	IMP	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0042127	regulation of cell population proliferation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0042059	negative regulation of epidermal growth factor receptor signaling pathway	IMP	biological process
GO:0043162	ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IMP	biological process
GO:0042147	retrograde transport, endosome to Golgi	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070936	protein K48-linked ubiquitination	IEA	biological process
GO:0070534	protein K63-linked ubiquitination	IEA	biological process
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0005154	epidermal growth factor receptor binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq